Linked Data
ClinVar Variation Id:
446887
dbSNP Id:
rs191563592
ExAC:
X:76937221 T / A
gnomAD v2:
X-76937221-T-A
gnomAD v3:
X-77681729-T-A
gnomAD v4:
X-77681729-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77681729T>A , CM000685.2:g.77681729T>A | GRCh38 |
| NC_000023.10:g.76937221T>A , CM000685.1:g.76937221T>A | GRCh37 |
| NC_000023.9:g.76823877T>A | NCBI36 |
| NG_008838.2:g.109493A>T | |
| NG_008838.3:g.109541A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3527A>T MANE Select | ENSP00000362441.4:p.Lys1176Met | |
| ENST00000373344.9:c.3527A>T | ENSP00000362441.4:p.Lys1176Met | |
| ENST00000395603.7:c.3413A>T | ENSP00000378967.3:p.Lys1138Met | |
| ENST00000480283.5:c.*3155A>T | ENSP00000480196.1:n.*3155A>T | |
| ENST00000493470.2:c.413A>T | ENSP00000485408.1:p.Lys138Met | |
| ENST00000624166.3:c.3323A>T | ENSP00000485103.1:p.Lys1108Met | |
| NM_000489.4:c.3527A>T | NP_000480.3:p.Lys1176Met | |
| NM_138270.3:c.3413A>T | NP_612114.2:p.Lys1138Met | |
| XM_005262153.3:c.3524A>T | XP_005262210.2:p.Lys1175Met | |
| XM_005262154.3:c.3440A>T | XP_005262211.2:p.Lys1147Met | |
| XM_005262155.3:c.3410A>T | XP_005262212.2:p.Lys1137Met | |
| XM_005262156.3:c.3362A>T | XP_005262213.2:p.Lys1121Met | |
| XM_005262157.3:c.3323A>T | XP_005262214.2:p.Lys1108Met | |
| XM_006724666.2:c.3410A>T | XP_006724729.1:p.Lys1137Met | |
| XM_006724667.2:c.3248A>T | XP_006724730.1:p.Lys1083Met | |
| XM_006724668.2:c.3527A>T | XP_006724731.1:p.Lys1176Met | |
| XR_938400.1:n.3795A>T | ||
| NM_000489.5:c.3527A>T | NP_000480.3:p.Lys1176Met | |
| XM_005262153.5:c.3524A>T | XP_005262210.2:p.Lys1175Met | |
| XM_005262154.5:c.3440A>T | XP_005262211.2:p.Lys1147Met | |
| XM_005262155.4:c.3410A>T | XP_005262212.2:p.Lys1137Met | |
| XM_005262156.4:c.3362A>T | XP_005262213.2:p.Lys1121Met | |
| XM_005262157.5:c.3323A>T | XP_005262214.2:p.Lys1108Met | |
| XM_006724666.4:c.3410A>T | XP_006724729.1:p.Lys1137Met | |
| XM_006724667.3:c.3248A>T | XP_006724730.1:p.Lys1083Met | |
| XM_006724668.3:c.3527A>T | XP_006724731.1:p.Lys1176Met | |
| XM_017029601.2:c.3437A>T | XP_016885090.1:p.Lys1146Met | |
| XM_017029602.1:c.3407A>T | XP_016885091.1:p.Lys1136Met | |
| XM_017029603.1:c.3359A>T | XP_016885092.1:p.Lys1120Met | |
| XM_017029604.2:c.3326A>T | XP_016885093.1:p.Lys1109Met | |
| XM_017029605.1:c.3323A>T | XP_016885094.1:p.Lys1108Met | |
| XM_017029606.2:c.3296A>T | XP_016885095.1:p.Lys1099Met | |
| XM_017029607.2:c.3293A>T | XP_016885096.1:p.Lys1098Met | |
| XM_017029608.2:c.3245A>T | XP_016885097.1:p.Lys1082Met | |
| XM_017029609.1:c.3209A>T | XP_016885098.1:p.Lys1070Met | |
| XM_017029610.1:c.3206A>T | XP_016885099.1:p.Lys1069Met | |
| XM_017029611.1:c.3161A>T | XP_016885100.1:p.Lys1054Met | |
| XR_001755700.2:n.3752A>T | ||
| NM_138270.4:c.3413A>T | NP_612114.2:p.Lys1138Met | |
| NM_000489.6:c.3527A>T MANE Select | NP_000480.3:p.Lys1176Met | |
| NM_138270.5:c.3413A>T | NP_612114.2:p.Lys1138Met |